Varaico: Literature-Extracted Genetic Variants

Gene:TENM4
Variant:p.V1138M
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TENM4

NM_001098816.3:p.V1138M

Associated Papers

Transcript Imbalance from TENM4 Exon Skipping: Effects on Epilepsy and Genetic Pleiotropy.

Suzuki Y et al.

Molecular Neurobiology, 2025

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.

Buianova A et al.

Plos One, 2024

39423205 (PubMed )
Supplement: pone.0312335.s008.xlsx › Pathogenic_Fam_C__references_

Han family with essential tremor caused by the P421L variant of the TENM4 gene in China.

Chi W et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

Genetic testing of FUS, HTRA2, and TENM4 genes in Chinese patients with essential tremor.

Yan YP et al.

Cns Neuroscience & Therapeutics, 2020

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

Hor H et al.

Human Molecular Genetics, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."